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5p13.3CNV Type: Deletion-Duplication


Largest CNV size: 253021 bp

Statistics Box:
Number of Reports: 8


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Functional impact of global rare copy number variation in autism spectrum disorders.
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 brandler_18_ASD_replication_cases
 Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
 1979
 Cases diagnosed with ASD
 N/A
 N/A
 2834
 2
 0
 2
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 37905
 1
 1
 2
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 1968467
 2
 0
 2
 krumm_15_ASD_discovery_cases
 Probands from the Simons Simplex Collection
 2377
 Diagnosis of ASD
 N/A
 N/A
 52592
 1
 46
 47
 pinto_10_ASD_discovery_cases
 Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
 996
 ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
 
 
 30036
 0
 1
 1
 prasad_12_ASD_discovery_cases
 Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
 676
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
 NA
 82.84% Male
 58724
 1
 2
 3
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 253021
 20
 52
 72
 yin_16_ASD_discovery_cases
 Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
 335
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
 Mean, 9.39 4.04 yrs.
 89.3% Male
 19758
 0
 1
 1

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 160391
 3
 2
 5
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA
 kanduri_15_ASD_discovery_controls
 Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
 269
 Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 N/A
 N/A
 6556
 1
 0
 1
 krumm_15_ASD_discovery_controls
 Unaffected siblings from quad families from the Simons Simplex Collection
 1786
 Control
 N/A
 N/A
 75673
 1
 28
 29
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 33027
 0
 1
 1
 prasad_12_ASD_discovery_controls
 PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
 5139
 Control
 NA
 NA (PDx controls 50.2% male)
 58724
 0
 0
 0
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 253021
 19
 33
 52
 yin_16_ASD_discovery_controls
 Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
 1093
 Controls
 Mean, 68.07 10.12 yrs.
 48.0% Male
 19758
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 brandler_18_ASD_replication_cases
  N/A
 WGS
  Illumina HiSeq X10
 ForestSV, Lumpy, Manta, Mobster, SV2
 
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 krumm_15_ASD_discovery_cases
  N/A
 WES
 
 CoNIFER, XHMM
 
 Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
 pinto_10_ASD_discovery_cases
  European
 Solid phase hybridization
  Illumina Infinium 1M SNP microarray
 QuantiSNP, iPattern
 
 qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
 prasad_12_ASD_discovery_cases
  Canada
 aCGH
  Agilent 1M
 ADM-2, DNAcopy (R Bioconductor)
 DNA Analytics v4.0.85 (Agilent), DNAcopy
 None
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 yin_16_ASD_discovery_cases
  Han Chinese
 Array SNP
  Affymetrix 6.0
 
 Affymetrix Genotyping Console v.4.1
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 
  kanduri_15_ASD_discovery_controls
  Finnish
  Solid phase hybridization
  Illumina Infinium HD Human610-Quad BeadChip
  QuantiSNP, PennCNV
  Illumina BeadStudio
  None
  krumm_15_ASD_discovery_controls
  N/A
  WES
 
  CoNIFER, XHMM
 
  Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  prasad_12_ASD_discovery_controls
  NA
  aCGH
  Agilent 1M
  ADM-2, DNAcopy (R Bioconductor)
  DNA Analytics v4.0.85 (Agilent), DNAcopy
 
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 
  yin_16_ASD_discovery_controls
  Han Chinese
  Array SNP
  Affymetrix 6.0
 
  Affymetrix Genotyping Console v.4.1
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  brandler_18_ASD_replication_cases-case5-0009-003
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 32074427
 32076064
  1638
 GRCh38
 Deletion
 No
  brandler_18_ASD_replication_cases-caseAU3840302
 N/A
 M
 ASD
 Case from MSSNG cohort
 
 31635766
 31638599
  2834
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5358_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 32661381
 32699286
  37906
 GRCh38
 Deletion
 No
  engchuan_15_ASD_discovery_cases-case5429_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 31285235
 31315270
  30036
 GRCh38
 Duplication
 No
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001829
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30138275
 32106743
  1968469
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001972
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 30121868
 32072887
  1951020
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11014.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11056.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11109.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11122.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32126211
 32143880
  17670
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11178.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143882
  35915
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11284.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11359.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 33637576
 33643470
  5895
 GRCh38
 Deletion
 Yes
  krumm_15_ASD_discovery_cases-case11394.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32126211
 32143880
  17670
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11480.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11691.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11788.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11917.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143882
  35915
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case11935.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12014.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12114.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12119.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32107968
 32143882
  35915
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12185.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12341.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12439.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12444.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32101104
 32143882
  42779
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12481.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143882
  35915
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12507.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32126211
 32143880
  17670
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12555.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case12894.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32126211
 32143880
  17670
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13043.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13072.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13134.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13158.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32126211
 32143880
  17670
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13199.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32126211
 32143880
  17670
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13234.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32126211
 32143880
  17670
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13237.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13716.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13804.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143882
  35915
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13833.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32126211
 32143880
  17670
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13928.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32000138
 32052730
  52593
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case13962.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14045.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14047.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32126211
 32143880
  17670
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14051.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14080.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14104.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14116.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14118.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143882
  35915
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14270.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32126211
 32143880
  17670
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14423.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143882
  35915
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14438.p1
 N/A
 Female
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Trio
 
 32107968
 32143882
  35915
 GRCh38
 Duplication
 Yes
  krumm_15_ASD_discovery_cases-case14474.p1
 N/A
 Male
 ASD
 Proband from the Simons Simplex Collection (SSC). Family type: Quad
 
 32107968
 32143880
  35913
 GRCh38
 Duplication
 Yes
  pinto_10_ASD_discovery_cases-case5429_3
 NA
 M
 ASD
 NA
 NA
 31285235
 31315270
  30036
 GRCh38
 Duplication
 Yes
  prasad_12_ASD_discovery_cases-case160944
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 31920198
 31978921
  58724
 Unknown
 Duplication
 No
  prasad_12_ASD_discovery_cases-case53696
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 32694250
 32740699
  46450
 Unknown
 Deletion
 No
  prasad_12_ASD_discovery_cases-case94790
 NA
 M
 ASD
 Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
 
 31319827
 31349130
  29304
 Unknown
 Duplication
 No
  sanders_11_ASD_discovery_cases-11008.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 129; non-verbal IQ, 119; verbal IQ, 133
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11011.p1
 8.3
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 88; verbal IQ, 69
 34288778
 34313305
  24528
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11014.p1
 9.6
 M
 Autism
 NA
 Full-scale IQ, 148; non-verbal IQ, 158; verbal IQ, 113
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11050.p1
 5.7
 F
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 95; verbal IQ 104
 34288778
 34313305
  24528
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11056.p1
 6.4
 M
 Autism
 NA
 Full-scale IQ, 64; non-verbal IQ, 90; verbal IQ, 62
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11096.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 95
 34267508
 34313305
  45798
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11109.p1
 4.5
 F
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 96; verbal IQ 71
 32106978
 32159411
  52434
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11113.p1
 15
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 100; verbal IQ 88
 34288778
 34322959
  34182
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11115.p1
 13.8
 F
 Autism
 NA
 Full-scale IQ, 37; non-verbal IQ, 46; verbal IQ, 19
 34288778
 34313305
  24528
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11122.p1
 7.8
 F
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 114; verbal IQ 107
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11134.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 117; non-verbal IQ, 115; verbal IQ 116
 29530353
 29536031
  5679
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11135.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 104; verbal IQ, 102
 34288778
 34313305
  24528
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11142.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 44; non-verbal IQ, 53; verbal IQ, 31
 34288778
 34313305
  24528
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11167.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 113; non-verbal IQ, 119; verbal IQ, 105
 29848936
 29905696
  56761
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11176.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 130; non-verbal IQ, 117; verbal IQ, 144
 32654092
 32663390
  9299
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11178.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 114; non-verbal IQ, 119; verbal IQ, 103
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11189.p1
 14.5
 M
 Autism
 NA
 Full-scale IQ, 60; non-verbal IQ, 77; verbal IQ, 37
 29495457
 29501106
  5650
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11212.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 118; verbal IQ, 117
 32106978
 32159411
  52434
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11214.p1
 15.5
 M
 ASD
 NA
 Full-scale IQ, 93; non-verbal IQ, 100; verbal IQ, 83
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11239.p1
 17.3
 F
 Autism
 NA
 Full-scale IQ, 123; non-verbal IQ, 109; verbal IQ, 140
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11284.p1
 8.3
 M
 ASD
 NA
 Full-scale IQ, 122; non-verbal IQ, 117; verbal IQ, 125
 32106978
 32159411
  52434
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11290.p1
 11.3
 M
 ASD
 NA
 Full-scale IQ, 119; non-verbal IQ, 119; verbal IQ, 115
 31391299
 31391664
  366
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11296.p1
 13.6
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 82; verbal IQ, 71
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11307.p1
 16.1
 M
 Autism
 NA
 Full-scale IQ, 90; non-verbal IQ, 84; verbal IQ, 104
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11312.p1
 10
 M
 ASD
 NA
 Full-scale IQ, 104; non-verbal IQ, 109; verbal IQ, 96
 34288778
 34313305
  24528
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11394.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 76; non-verbal IQ, 74; verbal IQ 87
 32106978
 32159411
  52434
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11455.p1
 7.6
 M
 ASD
 NA
 Full-scale IQ, 68; non-verbal IQ, 73; verbal IQ, 69
 34115423
 34126158
  10736
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11473.p1
 11.5
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 109; verbal IQ, 105
 29321647
 29574668
  253022
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11480.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 41; verbal IQ, 24
 32106978
 32169441
  62464
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11499.p1
 7
 M
 Autism
 NA
 Full-scale IQ, 133; non-verbal IQ, 139; verbal IQ, 108
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11542.p1
 12.5
 F
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 102; verbal IQ, 121
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11557.p1
 4.8
 M
 Autism
 NA
 Full-scale IQ, 78; non-verbal IQ, 80; verbal IQ, 81
 32106978
 32159411
  52434
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11561.p1
 5.9
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 103; verbal IQ, 114
 34288778
 34322959
  34182
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11583.p1
 13
 M
 Autism
 NA
 Full-scale IQ, 51; non-verbal IQ, 53; verbal IQ, 50
 34288778
 34313305
  24528
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11660.p1
 5
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 60; verbal IQ, 63
 29812127
 29834475
  22349
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-11677.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 101; non-verbal IQ, 100; verbal IQ, 103
 34288778
 34322959
  34182
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11691.p1
 14.7
 M
 Autism
 NA
 Full-scale IQ, 59; non-verbal IQ, 62; verbal IQ, 54
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11788.p1
 8.8
 M
 Autism
 NA
 Full-scale IQ, 84; non-verbal IQ, 92; verbal IQ, 75
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11855.p1
 14.8
 M
 Autism
 NA
 Full-scale IQ, 75; non-verbal IQ, 94; verbal IQ, 48
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11917.p1
 8
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 115; verbal IQ, 71
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11935.p1
 5.3
 M
 Autism
 NA
 Full-scale IQ, 83; non-verbal IQ, 90; verbal IQ, 77
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11999.p1
 5.8
 F
 Autism
 NA
 Full-scale IQ, 58; non-verbal IQ, 55; verbal IQ, 75
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12014.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 107; verbal IQ, 133
 32106978
 32159411
  52434
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12028.p1
 9.3
 M
 Autism
 NA
 Full-scale IQ, 87; non-verbal IQ, 93; verbal IQ, 80
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12068.p1
 12.5
 M
 Autism
 NA
 Full-scale IQ, 35; non-verbal IQ, 39; verbal IQ, 26
 34288778
 34322959
  34182
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12114.p1
 16.7
 F
 Autism
 NA
 Full-scale IQ, 99; non-verbal IQ, 85; verbal IQ, 123
 32106978
 32159411
  52434
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12118.p1
 12.6
 F
 Autism
 NA
 Full-scale IQ, 82; non-verbal IQ, 74; verbal IQ, 102
 29530353
 29536031
  5679
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12119.p1
 5.2
 M
 Autism
 NA
 Full-scale IQ, 48; non-verbal IQ, 55; verbal IQ, 41
 32106978
 32159411
  52434
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12150.p1
 8.7
 M
 Autism
 NA
 Full-scale IQ, 109; non-verbal IQ, 95; verbal IQ, 133
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12337.p1
 11.6
 M
 ASD
 NA
 Full-scale IQ, 121; non-verbal IQ, 112; verbal IQ, 131
 29530353
 29536031
  5679
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12345.p1
 11.7
 M
 Autism
 NA
 Full-scale IQ, 91; non-verbal IQ, 101; verbal IQ, 81
 29495457
 29501106
  5650
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12363.p1
 14.3
 M
 Autism
 NA
 Full-scale IQ, 108; non-verbal IQ, 108; verbal IQ, 106
 32106978
 32159411
  52434
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12423.p1
 10.1
 M
 Autism
 NA
 Full-scale IQ, 104; non-verbal IQ, 115; verbal IQ, 82
 29530353
 29536031
  5679
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12444.p1
 9.5
 F
 Autism
 NA
 Full-scale IQ, 65; non-verbal IQ, 59; verbal IQ, 79
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12481.p1
 5.6
 M
 Autism
 NA
 Full-scale IQ, 42; non-verbal IQ, 47; verbal IQ, 37
 32106978
 32159411
  52434
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12507.p1
 18
 M
 Autism
 NA
 Full-scale IQ, 80; non-verbal IQ, 73; verbal IQ, 100
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12555.p1
 16.9
 M
 Autism
 NA
 Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12572.p1
 14.9
 M
 Autism
 NA
 Full-scale IQ, 38; non-verbal IQ, 49; verbal IQ, 31
 29530353
 29536031
  5679
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12596.p1
 4.9
 M
 Autism
 NA
 Full-scale IQ, 61; non-verbal IQ, 89; verbal IQ, 32
 29530353
 29536031
  5679
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12645.p1
 4.3
 M
 Autism
 NA
 Full-scale IQ, 86; non-verbal IQ, 84; verbal IQ, 94
 29530353
 29536031
  5679
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12653.p1
 11
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 69; verbal IQ, 97
 32101294
 32167114
  65821
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12681.p1
 6.5
 F
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 65; verbal IQ, 69
 32106978
 32159411
  52434
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12691.p1
 10.9
 F
 Autism
 NA
 Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
 29530353
 29536031
  5679
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12805.p1
 8.5
 F
 Autism
 NA
 Full-scale IQ, 100; non-verbal IQ, 104; verbal IQ, 93
 32099585
 32156982
  57398
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12894.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
 29530353
 29536031
  5679
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12894.p1
 6.8
 M
 Autism
 NA
 Full-scale IQ, 77; non-verbal IQ, 80; verbal IQ, 79
 32106978
 32169441
  62464
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13039.p1
 6.3
 M
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 135; verbal IQ, 93
 29530353
 29536031
  5679
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13043.p1
 6.2
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 127; verbal IQ, 111
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13072.p1
 15.5
 F
 Autism
 NA
 Full-scale IQ, 94; non-verbal IQ, 94; verbal IQ, 97
 32106978
 32167114
  60137
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13304.p1
 6.9
 M
 Autism
 NA
 Full-scale IQ, 74; non-verbal IQ, 61; verbal IQ, 111
 32966374
 32973451
  7078
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-13337.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 125; non-verbal IQ, 107; verbal IQ, 110
 32106978
 32159411
  52434
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-13367.p1
 9.7
 F
 Autism
 NA
 Full-scale IQ, 53; non-verbal IQ, 57; verbal IQ, 46
 32106978
 32159411
  52434
 GRCh38
 Duplication
 No
  yin_16_ASD_discovery_cases-case217
 N/A
 N/A
 ASD
 Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
 
 32081305
 32101062
  19758
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB406833_1007874401
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29268136
  29342033
  73898
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlB581247_1007872544
  N/A
  N/A
  Control
  No previous psychiatric history
 
  29947445
  30107836
  160392
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlB953582_1007843997
  N/A
  N/A
  Control
  No previous psychiatric history
 
  33910603
  33973070
  62468
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900087_900087
  N/A
  N/A
  Control
  No previous psychiatric history
 
  30027476
  30075860
  48385
  GRCh38
  Deletion
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900942_900942
  N/A
  N/A
  Control
  No previous psychiatric history
 
  31885615
  31925084
  39470
  GRCh38
  Duplication
  No
  kanduri_15_ASD_discovery_controls-control_split1931
  N/A
  N/A
  Control
  Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
 
  32913929
  32920484
  6556
  Unknown
  Deletion
  No
  krumm_15_ASD_discovery_controls-control11203.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32126211
  32143880
  17670
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11212.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11220.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32126211
  32143880
  17670
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11336.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11359.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  33637576
  33643470
  5895
  GRCh38
  Deletion
  Yes
  krumm_15_ASD_discovery_controls-control11458.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11490.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32101104
  32143882
  42779
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11638.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11691.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control11740.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32126211
  32143880
  17670
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12014.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12113.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32101104
  32143882
  42779
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12581.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control12833.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32126211
  32174034
  47824
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13072.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32126211
  32143880
  17670
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13196.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13324.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32126211
  32143880
  17670
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13535.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32126211
  32143880
  17670
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13623.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13645.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13804.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143882
  35915
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control13962.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14051.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14080.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14104.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14270.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32126211
  32143880
  17670
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14369.s1
  N/A
  Female
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32107968
  32143880
  35913
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14423.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32098363
  32174036
  75674
  GRCh38
  Duplication
  Yes
  krumm_15_ASD_discovery_controls-control14491.s1
  N/A
  Male
  Control
  Unaffected sibling from the Simons Simplex Collection (SSC)
 
  32126211
  32143880
  17670
  GRCh38
  Duplication
  Yes
  nord_11_ASD_discovery_controls-04C28231
 
 
  Control
 
 
  29459164
  29492190
  33027
  Unknown
  Duplication
 
  sanders_11_ASD_discovery_controls-11008.s1
  26.3
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32159411
  52434
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11023.s1
  10.4
  F
  Control (matched sibling)
  NA
  NA
  29421514
  29440851
  19338
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11056.s1
  10.6
  F
  Control (matched sibling)
  NA
  NA
  32106978
  32169441
  62464
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11107.s1
  3.7
  M
  Control (matched sibling)
  NA
  NA
  34288778
  34322959
  34182
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11176.s1
  8.8
  F
  Control (matched sibling)
  NA
  NA
  32654092
  32663390
  9299
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11203.s1
  4
  F
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11212.s1
  19.2
  F
  Control (matched sibling)
  NA
  NA
  32106978
  32159411
  52434
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11214.s1
  17.2
  F
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11220.s1
  13.6
  F
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11277.s1
  7.2
  F
  Control (matched sibling)
  NA
  NA
  29530353
  29536031
  5679
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11290.s1
  13.4
  F
  Control (matched sibling)
  NA
  NA
  31391299
  31391664
  366
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11307.s1
  13.1
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11318.s1
  5.7
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11321.s1
  15.2
  F
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11336.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11458.s1
  14.5
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32159411
  52434
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11470.s1
  12.2
  M
  Control (matched sibling)
  NA
  NA
  29530353
  29536031
  5679
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11473.s1
  9.3
  F
  Control (matched sibling)
  NA
  NA
  29321647
  29574668
  253022
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11490.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11490.s1
  9.8
  F
  Control (matched sibling)
  NA
  NA
  32913823
  32923186
  9364
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11498.s1
  5.9
  M
  Control (matched sibling)
  NA
  NA
  34288778
  34313305
  24528
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11499.s1
  12.9
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11542.s1
  14.6
  F
  Control (matched sibling)
  NA
  NA
  32106978
  32169441
  62464
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11638.s1
  14.4
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32154779
  47802
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11657.s1
  8.2
  F
  Control (matched sibling)
  NA
  NA
  29530353
  29536031
  5679
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11667.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  29530353
  29536031
  5679
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11691.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11740.s1
  9.3
  M
  Control (matched sibling)
  NA
  NA
  32134923
  32159411
  24489
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11860.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  33992290
  34001750
  9461
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11883.s1
  6.1
  F
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12014.s1
  4.3
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12052.s1
  5.4
  F
  Control (matched sibling)
  NA
  NA
  29530353
  29536031
  5679
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12113.s1
  6.5
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32159411
  52434
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12118.s1
  14.8
  F
  Control (matched sibling)
  NA
  NA
  29530353
  29536031
  5679
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12150.s1
  10.3
  F
  Control (matched sibling)
  NA
  NA
  32130295
  32159411
  29117
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12201.s1
  12.1
  M
  Control (matched sibling)
  NA
  NA
  32968614
  32973451
  4838
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12295.s1
  20
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32159411
  52434
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12345.s1
  12.9
  F
  Control (matched sibling)
  NA
  NA
  29495457
  29501106
  5650
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12363.s1
  21.9
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32159411
  52434
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12444.s1
  7
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32159411
  52434
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12457.s1
  5.6
  M
  Control (matched sibling)
  NA
  NA
  30944370
  30947505
  3136
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12581.s1
  15.7
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12596.s1
  6.3
  F
  Control (matched sibling)
  NA
  NA
  29530353
  29536031
  5679
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12645.s1
  11.3
  M
  Control (matched sibling)
  NA
  NA
  29530353
  29536031
  5679
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12653.s1
  8.5
  F
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12691.s1
  23.8
  M
  Control (matched sibling)
  NA
  NA
  29530353
  29536031
  5679
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12695.s1
  14.1
  M
  Control (matched sibling)
  NA
  NA
  29530353
  29536031
  5679
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12853.s1
  8
  M
  Control (matched sibling)
  NA
  NA
  29530353
  29536031
  5679
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12894.s1
  4.9
  F
  Control (matched sibling)
  NA
  NA
  29530353
  29536031
  5679
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13039.s1
  4.5
  M
  Control (matched sibling)
  NA
  NA
  29530353
  29536031
  5679
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-13196.s1
  12.1
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-13324.s1
  16.3
  M
  Control (matched sibling)
  NA
  NA
  32106978
  32167114
  60137
  GRCh38
  Duplication
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 brandler_18_ASD_replication_cases-case5-0009-003
 No validation step reported
 
 Maternal
 
 
 PDZD2
 
 brandler_18_ASD_replication_cases-caseAU3840302
 No validation step reported
 
 Maternal
 
 
 
 
 engchuan_15_ASD_discovery_cases-case5358_3
 
 
 Unknown
 
 
 NPR3
 
 engchuan_15_ASD_discovery_cases-case5429_3
 
 
 Unknown
 
 
 CDH6
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001829
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HPRT1P2,RPL19P11,DUX4L51,RNU6-363P,RNU6-358P,RNU6-760P,RPL5P14,TPT1P5,MIR4279,C5orf22,CDH6,PDZD2,DROSHA
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001972
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 HPRT1P2,RPL19P11,DUX4L51,RNU6-363P,RNU6-358P,RNU6-760P,RPL5P14,TPT1P5,MIR4279,C5orf22,CDH6,PDZD2,DROSHA
 
 krumm_15_ASD_discovery_cases-case11014.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case11056.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case11109.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case11122.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 GOLPH3
 
 krumm_15_ASD_discovery_cases-case11178.p1
 Illumina 1M
 
 Paternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case11284.p1
 Illumina 1M
 
 Maternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case11359.p1
 Illumina 1M
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 ADAMTS12
 
 krumm_15_ASD_discovery_cases-case11394.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GOLPH3
 
 krumm_15_ASD_discovery_cases-case11480.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case11691.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case11788.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case11917.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case11935.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case12014.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case12114.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case12119.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case12185.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case12341.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case12439.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case12444.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case12481.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case12507.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GOLPH3
 
 krumm_15_ASD_discovery_cases-case12555.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case12894.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GOLPH3
 
 krumm_15_ASD_discovery_cases-case13043.p1
 Illumina 1MDuo
 
 Maternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case13072.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case13134.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case13158.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 GOLPH3
 
 krumm_15_ASD_discovery_cases-case13199.p1
 Illumina 1MDuo
 
 Paternal
 Simplex
 Segregated
 GOLPH3
 
 krumm_15_ASD_discovery_cases-case13234.p1
 1M-Duov3
 
 Paternal
 Simplex
 Segregated
 GOLPH3
 
 krumm_15_ASD_discovery_cases-case13237.p1
 1M-Duov3
 
 Maternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case13716.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case13804.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case13833.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 GOLPH3
 
 krumm_15_ASD_discovery_cases-case13928.p1
 Omni2.5-4v1
 
 De novo
 Simplex
 Segregated
 PDZD2
 
 krumm_15_ASD_discovery_cases-case13962.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case14045.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case14047.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Segregated
 GOLPH3
 
 krumm_15_ASD_discovery_cases-case14051.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case14080.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case14104.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case14116.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case14118.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case14270.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GOLPH3
 
 krumm_15_ASD_discovery_cases-case14423.p1
 Omni2.5-4v1
 
 Paternal
 Simplex
 Not segregated (CNV in unaffected sibling)
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case14438.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 krumm_15_ASD_discovery_cases-case14474.p1
 Omni2.5-4v1
 
 Maternal
 Simplex
 Segregated
 GOLPH3,PDZD2
 
 pinto_10_ASD_discovery_cases-case5429_3
 Agilent1M
 
 paternal
 NA
 NA
 CDH6
 
 prasad_12_ASD_discovery_cases-case160944
 
 
 Unknown
 Unknown
 Unknown
 MIR4279,PDZD2
 
 prasad_12_ASD_discovery_cases-case53696
 
 
 Unknown
 Unknown
 Unknown
 0 genes
 
 prasad_12_ASD_discovery_cases-case94790
 
 
 Unknown
 Unknown
 Unknown
 CDH6
 
 sanders_11_ASD_discovery_cases-11008.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11011.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11014.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11050.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11056.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11096.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11109.p1
 
 
 Paternal
 Simplex (quad-proband unmatched)
 Unknown
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11113.p1
 
 
 Maternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11115.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11122.p1
 
 
 Maternal
 Simplex (trio)
 NA
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11134.p1
 
 
 Paternal
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11135.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11142.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-11167.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11176.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11178.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11189.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11212.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11214.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11239.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11284.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11290.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11296.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11307.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11312.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11394.p1
 
 
 Paternal
 Simplex (trio)
 NA
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11455.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 C1QTNF3-AMACR
 
 sanders_11_ASD_discovery_cases-11473.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 LINC02064
 
 sanders_11_ASD_discovery_cases-11480.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11499.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11542.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11557.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11561.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11583.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11660.p1
 
 
 Unknown
 Simplex (trio)
 NA
 
 
 sanders_11_ASD_discovery_cases-11677.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11691.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11788.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11855.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11917.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11935.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-11999.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-12014.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-12028.p1
 
 
 Maternal
 Simplex (trio)
 NA
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-12068.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12114.p1
 
 
 Paternal
 Simplex (trio)
 NA
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-12118.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12119.p1
 
 
 Maternal
 Simplex (trio)
 NA
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-12150.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-12337.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12345.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12363.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-12423.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12444.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-12481.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-12507.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-12555.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-12572.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12596.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12645.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12653.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-12681.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-12691.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12805.p1
 
 
 Both parents
 Simplex (trio)
 NA
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-12894.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12894.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-13039.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-13043.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-13072.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-13304.p1
 
 
 Unknown
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-13337.p1
 
 
 Paternal
 Simplex (trio)
 NA
 GOLPH3,PDZD2
 
 sanders_11_ASD_discovery_cases-13367.p1
 
 
 Maternal
 Simplex (trio)
 NA
 GOLPH3,PDZD2
 
 yin_16_ASD_discovery_cases-case217
 
 
 Unknown
 Unknown
 Unknown
 PDZD2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB406833_1007874401
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlB581247_1007872544
 
 
  Unknown
 
 
  RN7SKP207
 
engchuan_15_ASD_discovery_controls-controlB953582_1007843997
 
 
  Unknown
 
 
  RXFP3,SLC45A2
 
engchuan_15_ASD_discovery_controls-controlHABC_900087_900087
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900942_900942
 
 
  Unknown
 
 
  TPT1P5,PDZD2
 
kanduri_15_ASD_discovery_controls-control_split1931
 
 
  Unknown
 
 
  Intergenic CNV: nearest genes, NPR3(dist=122099),LOC340113(dist=27065)
 
krumm_15_ASD_discovery_controls-control11203.s1
  Illumina 1M
 
  Maternal
 
 
  GOLPH3
 
krumm_15_ASD_discovery_controls-control11212.s1
  Illumina 1M
 
  Maternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control11220.s1
  Illumina 1M
 
  Paternal
 
 
  GOLPH3
 
krumm_15_ASD_discovery_controls-control11336.s1
  Illumina 1M
 
  Paternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control11359.s1
  Illumina 1M
 
  Maternal
 
 
  ADAMTS12
 
krumm_15_ASD_discovery_controls-control11458.s1
  Illumina 1M
 
  Maternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control11490.s1
  Illumina 1M
 
  Paternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control11638.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control11691.s1
  Illumina 1MDuo
 
  Paternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control11740.s1
  Illumina 1MDuo
 
  Paternal
 
 
  GOLPH3
 
krumm_15_ASD_discovery_controls-control12014.s1
  Illumina 1MDuo
 
  Paternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control12113.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control12581.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control12833.s1
  1M-Duov3
 
  Paternal
 
 
  GOLPH3
 
krumm_15_ASD_discovery_controls-control13072.s1
  Illumina 1MDuo
 
  Paternal
 
 
  GOLPH3
 
krumm_15_ASD_discovery_controls-control13196.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control13324.s1
  Illumina 1MDuo
 
  Maternal
 
 
  GOLPH3
 
krumm_15_ASD_discovery_controls-control13535.s1
  1M-Duov3
 
  Paternal
 
 
  GOLPH3
 
krumm_15_ASD_discovery_controls-control13623.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control13645.s1
  1M-Duov3
 
  Maternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control13804.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control13962.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control14051.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control14080.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control14104.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control14270.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GOLPH3
 
krumm_15_ASD_discovery_controls-control14369.s1
  Omni2.5-4v1
 
  Maternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control14423.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GOLPH3,PDZD2
 
krumm_15_ASD_discovery_controls-control14491.s1
  Omni2.5-4v1
 
  Paternal
 
 
  GOLPH3
 
nord_11_ASD_discovery_controls-04C28231
 
 
 
 
 
  0 genes
 
sanders_11_ASD_discovery_controls-11008.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11023.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11056.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11107.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11176.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11203.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11212.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11214.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11220.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11277.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11290.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11307.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11318.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11321.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11336.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11458.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11470.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11473.s1
 
 
  Maternal
  Simplex (quad)
  NA
  LINC02064
 
sanders_11_ASD_discovery_controls-11490.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11490.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11498.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11499.s1
 
 
  Both parents
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11542.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11638.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11657.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11667.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11691.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-11740.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GOLPH3
 
sanders_11_ASD_discovery_controls-11860.s1
 
 
  Maternal
  Simplex (quad)
  NA
  AMACR,C1QTNF3-AMACR
 
sanders_11_ASD_discovery_controls-11883.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-12014.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-12052.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12113.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-12118.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12150.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3
 
sanders_11_ASD_discovery_controls-12201.s1
 
 
  Unknown
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12295.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-12345.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12363.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-12444.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-12457.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12581.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-12596.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12645.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12653.s1
 
 
  Paternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-12691.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12695.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12853.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12894.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13039.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-13196.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 
sanders_11_ASD_discovery_controls-13324.s1
 
 
  Maternal
  Simplex (quad)
  NA
  GOLPH3,PDZD2
 

No Animal Model Data Available
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